Characterization of the Patient Population With Galactosialidosis (CPPGAL)

This study is currently recruiting participants.
Verified December 2013 by St. Jude Children's Research Hospital
Sponsor:
Collaborators:
Assisi Foundation
Information provided by (Responsible Party):
St. Jude Children's Research Hospital
ClinicalTrials.gov Identifier:
NCT01416467
First received: August 11, 2011
Last updated: December 20, 2013
Last verified: December 2013

August 11, 2011
December 20, 2013
December 2011
July 2014   (final data collection date for primary outcome measure)
Mean, median and standard deviation of age distribution of patients with galactosialidosis. [ Time Frame: At enrollment ] [ Designated as safety issue: No ]
The clinical and demographic data will be tabulated and analyzed for age distribution and disease manifestations with a goal of defining eligibility criteria for future therapeutic protocols.
Age distribution and disease manifestations in individuals with a diagnosis of galactosialidosis. [ Time Frame: Three (3) years ] [ Designated as safety issue: No ]
The clinical and demographic data will be tabulated and analyzed for age distribution and disease manifestations with a goal of defining eligibility criteria for future therapeutic protocols.
Complete list of historical versions of study NCT01416467 on ClinicalTrials.gov Archive Site
Number and type of PPCA gene mutations in patients with galactosialidosis. [ Time Frame: At enrollment ] [ Designated as safety issue: No ]
The genotyping data will be tabulated and analyzed to determine the spectrum of mutations that result in the late infantile form of galactosialidosis.
The spectrum of mutations in the late infantile form of galactosialidosis. [ Time Frame: Three (3) years ] [ Designated as safety issue: No ]
The genotyping data will be tabulated and analyzed to determine the spectrum of mutations that result in the late infantile form of galactosialidosis.
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Not Provided
 
Characterization of the Patient Population With Galactosialidosis
Characterization of the Patient Population With Galactosialidosis

The late infantile form of galactosialidosis is potentially amenable to treatment by gene transfer with an adeno-associated viral vector encoding Protective Protein Cathepsin A (PPCA) or by infusion of purified protein. The published literature contains limited descriptions of the disease nor is it known how many patients with the disorder are potentially available for protocol enrollment. This preliminary study is designed to define the demographics and clinical characteristics of the patient population with galactosialidosis. Individuals for whom DNA diagnosis has been performed at St. Jude Children's Research Hospital (SJCRH) will be contacted telephonically to learn their current status. In addition, a letter requesting information regarding patients with galactosialidosis will be sent to all pediatric geneticists throughout the United States. Selected physicians with expertise in lysosomal storage diseases throughout the world will also be contacted. Foundations and Associations for the lysosomal storage disorders will also be contacted in an effort to identify additional potential patients with galactosialidosis. The information to be collected in this preliminary study will facilitate development of specific eligibility criteria for future therapeutic studies.

Individual patient/families will be interviewed by telephone to learn basic demographic information and disease status. Medical records will be requested from primary care providers to provide further information regarding their disorder. Individual patients identified through our survey of pediatric geneticists or via the disease foundations or associations will be sent a letter describing our purpose and which includes a consent form for a subsequent telephonic interview. Their medical records will also be requested.

Observational
Observational Model: Case-Only
Not Provided
Retention:   Samples With DNA
Description:

Blood for PPCA gene mutation and AAV2 and AAV8 antibody titer

Non-Probability Sample

Individuals with suspected or diagnosed galactosialidosis.

Galactosialidosis
Not Provided
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
35
July 2017
July 2014   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Individuals with suspected or confirmed molecular diagnosis of galactosialidosis who are ≥ 6 months of age.

Exclusion Criteria:

  • Individuals with a lysosomal storage disorder who have been shown to have a mutation in a gene other than that encoding PPCA.
Both
6 Months and older
No
Contact: Arthur W. Nienhuis, MD 1-866-278-5833 info@stjude.org
United States
 
NCT01416467
CPPGAL, R01DK095169
No
St. Jude Children's Research Hospital
St. Jude Children's Research Hospital
  • Assisi Foundation
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Arthur W. Nienhuis, MD St. Jude Children's Research Hospital
St. Jude Children's Research Hospital
December 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP